Canonical Allele Identifier: CA2561989926

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491641_92491642insTAGAATG , CM000669.2:g.92491641_92491642insTAGAATG	GRCh38
NC_000007.13:g.92120955_92120956insTAGAATG , CM000669.1:g.92120955_92120956insTAGAATG	GRCh37
NC_000007.12:g.91958891_91958892insTAGAATG	NCBI36
NG_008341.1:g.41890_41891insCATTCTA
NG_008341.2:g.41890_41891insCATTCTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3208-140_3208-139insCATTCTA (PEX1) MANE Select	ENSP00000248633.4:n.3208-140_3208-139insCATTCTA
ENST00000248633.8:c.3208-140_3208-139insCATTCTA (PEX1)	ENSP00000248633.4:n.3208-140_3208-139insCATTCTA
ENST00000428214.5:c.3037-140_3037-139insCATTCTA (PEX1)	ENSP00000394413.1:n.3037-140_3037-139insCATTCTA
ENST00000438045.5:c.2242-140_2242-139insCATTCTA (PEX1)	ENSP00000410438.1:n.2242-140_2242-139insCATTCTA
ENST00000484913.5:n.3247-140_3247-139insCATTCTA (PEX1)
ENST00000496420.5:n.4263-140_4263-139insCATTCTA (PEX1)
NM_000466.2:c.3208-140_3208-139insCATTCTA (PEX1)	NP_000457.1:n.3208-140_3208-139insCATTCTA
NM_001282677.1:c.3037-140_3037-139insCATTCTA (PEX1)	NP_001269606.1:n.3037-140_3037-139insCATTCTA
NM_001282678.1:c.2584-140_2584-139insCATTCTA (PEX1)	NP_001269607.1:n.2584-140_2584-139insCATTCTA
XM_005250433.3:c.1459-140_1459-139insCATTCTA (PEX1)	XP_005250490.1:n.1459-140_1459-139insCATTCTA
XR_242246.3:n.3304-140_3304-139insCATTCTA (PEX1)
XM_017012319.2:c.1459-140_1459-139insCATTCTA (PEX1)	XP_016867808.1:n.1459-140_1459-139insCATTCTA
XR_001744808.2:n.2235-140_2235-139insCATTCTA (PEX1)
XR_001744842.2:n.2679_2680insTAGAATG (GATAD1)
XR_001744843.2:n.2610_2611insTAGAATG (GATAD1)
XR_002956472.1:n.2736_2737insTAGAATG (GATAD1)
XR_002956473.1:n.2767_2768insTAGAATG (GATAD1)
XR_002956474.1:n.2684_2685insTAGAATG (GATAD1)
XR_242246.5:n.3255-140_3255-139insCATTCTA (PEX1)
XR_927494.3:n.1461_1462insTAGAATG (GATAD1)
XR_927500.3:n.1458_1459insTAGAATG (GATAD1)
XR_927503.3:n.1392_1393insTAGAATG (GATAD1)
NM_000466.3:c.3208-140_3208-139insCATTCTA (PEX1) MANE Select	NP_000457.1:n.3208-140_3208-139insCATTCTA
NM_001282677.2:c.3037-140_3037-139insCATTCTA (PEX1)	NP_001269606.1:n.3037-140_3037-139insCATTCTA
NM_001282678.2:c.2584-140_2584-139insCATTCTA (PEX1)	NP_001269607.1:n.2584-140_2584-139insCATTCTA